Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • بيانات النشر:
      Wiley, 2020.
    • الموضوع:
      2020
    • نبذة مختصرة :
      Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The phenotypic heterogeneity raises a caution for diagnosis.
    • ISSN:
      2050-0904
    • Rights:
      OPEN
    • الرقم المعرف:
      edsair.doi.dedup.....08e17545ebfbbed64bca9bcb780ab639